What is Alpers' disease?
Alpers' disease is a very rare disorder that is characterized by progressive damage and loss or degeneration of cells in the brain and serious liver problems, which eventually leads to death. It is also known as progressive sclerotizing poliosystrophy and progressive neuronal childhood degeneration. It is a hereditary disease affecting children with the advent of symptoms five years ago. Symptoms include seizures, loss of muscle control, dementia and liver failure. There is no medicine for Alpers' disease; Treatment focuses on alleviating symptoms. However, it is difficult to obtain a exact number due to difficulty diagnosing disorder. It is performed on one of the genes as a recessive feature, so both parents must be carriers to give it to their child. The exact mechanism of the failure is unknown, but it is assumed that it is a metabolic defect that affects the functioning of mitochondria in Cells lets them produce them unable to produce energy for tissue. Without this necessary energy, the cells of gray matter in the liquor are damaged and dying, whichThere is problems throughout the body.
Children affected by Alpers' disease usually show the first symptoms aged three months and five years. The first signs of the problem are usually seizures, stiffness of limbs and abnormal muscle tone called hypotonicity. These indicators are often followed by non -reaching cognitive and developmental milestones and loss of skills and abilities that have already been present.
Alpers' disease is a progressive disorder, which means that it constantly increases severity. From the beginning, the characters continue to lose their functioning and eventually cannot control their muscles, communicate or process information. They often develop dementia and lose all cognitive functin. They can develop a blindness from a state called optical atrophy, which is an optical nerve degeneration until it is already functional. Usually liver disease develops and patients experience jaundice and possible liver failure.
deterioration usuallyIt proceeds quickly, leading to possible death when the body and the brain are no longer able to function. Since the beginning of symptoms, patients may die within one year. Death is often caused by uncontrollable seizures, liver failure or cardio-respiration failure. Patients with Alpers' disease rarely survive in the last ten years.
Due to the fatal nature of the Alperic disease, treatment focuses on maintaining the functioning and comfort of as long as possible. At present, there is no way to slow down the progress of the disease, but measures can be taken to keep patients as comfortable as possible. Treatment may include physical therapy and anti-conventional drugs.